A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161455



Internal ID7906169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7709585..7920436hg38UCSC Ensembl
Innerchr12:7862181..8073032hg19UCSC Ensembl
Innerchr12:7753448..7964299hg18UCSC Ensembl
Innerchr12:7753448..7964299hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38210852
hg19210852
hg18210852
hg17210852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422192
Supporting Variants
SamplesND03710
Known GenesCLEC4C, DPPA3, NANOG, NANOGNB, SLC2A14, SLC2A3
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161455
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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